MRI Patterns in Pediatric CNS Hemophagocytic Lymphohistiocytosis.
Journal
AJNR. American journal of neuroradiology
ISSN: 1936-959X
Titre abrégé: AJNR Am J Neuroradiol
Pays: United States
ID NLM: 8003708
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
received:
12
05
2021
accepted:
19
07
2021
pubmed:
9
10
2021
medline:
25
11
2021
entrez:
8
10
2021
Statut:
ppublish
Résumé
Neuroimaging has an important role in detecting CNS involvement in children with systemic or CNS isolated hemophagocytic lymphohistiocytosis. We characterized a cohort of pediatric patients with CNS hemophagocytic lymphohistiocytosis focusing on neuroradiologic features and assessed whether distinct MR imaging patterns and genotype correlations can be recognized. We retrospectively enrolled consecutive pediatric patients diagnosed with hemophagocytic lymphohistiocytosis with CNS involvement treated at 2 pediatric neurology centers between 2010 and 2018. Clinical and MR imaging data were analyzed. Fifty-seven children (40 primary, 70%) with a median age of 36 months (interquartile range, 5.5-80.8 months) were included. One hundred twenty-three MR imaging studies were assessed, and 2 broad imaging patterns were identified. Pattern 1 (significant parenchymal disease, 32/57, 56%) was seen in older children ( Distinct MR imaging patterns correlating with clinical phenotypes and possible genetic underpinnings were recognized in this cohort of pediatric CNS hemophagocytic lymphohistiocytosis. Disruptive mutations and missense mutations with absent protein expression correlate with a younger onset age. Children with brainstem and cerebellitis patterns and a negative etiologic work-up require directed assessment for CNS hemophagocytic lymphohistiocytosis.
Sections du résumé
BACKGROUND AND PURPOSE
Neuroimaging has an important role in detecting CNS involvement in children with systemic or CNS isolated hemophagocytic lymphohistiocytosis. We characterized a cohort of pediatric patients with CNS hemophagocytic lymphohistiocytosis focusing on neuroradiologic features and assessed whether distinct MR imaging patterns and genotype correlations can be recognized.
MATERIALS AND METHODS
We retrospectively enrolled consecutive pediatric patients diagnosed with hemophagocytic lymphohistiocytosis with CNS involvement treated at 2 pediatric neurology centers between 2010 and 2018. Clinical and MR imaging data were analyzed.
RESULTS
Fifty-seven children (40 primary, 70%) with a median age of 36 months (interquartile range, 5.5-80.8 months) were included. One hundred twenty-three MR imaging studies were assessed, and 2 broad imaging patterns were identified. Pattern 1 (significant parenchymal disease, 32/57, 56%) was seen in older children (
CONCLUSIONS
Distinct MR imaging patterns correlating with clinical phenotypes and possible genetic underpinnings were recognized in this cohort of pediatric CNS hemophagocytic lymphohistiocytosis. Disruptive mutations and missense mutations with absent protein expression correlate with a younger onset age. Children with brainstem and cerebellitis patterns and a negative etiologic work-up require directed assessment for CNS hemophagocytic lymphohistiocytosis.
Identifiants
pubmed: 34620587
pii: ajnr.A7292
doi: 10.3174/ajnr.A7292
pmc: PMC8583278
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2077-2085Subventions
Organisme : Medical Research Council
ID : G0902001
Pays : United Kingdom
Informations de copyright
© 2021 by American Journal of Neuroradiology.
Références
Clin Radiol. 2021 Feb;76(2):159.e9-159.e17
pubmed: 33036779
J Clin Immunol. 2020 Aug;40(6):901-916
pubmed: 32638196
Pediatr Neurol. 2004 May;30(5):361-4
pubmed: 15165642
Neurology. 2012 Apr 10;78(15):1150-6
pubmed: 22422896
Blood. 2002 Oct 1;100(7):2367-73
pubmed: 12239144
Brain. 2017 Sep 1;140(9):2415-2425
pubmed: 29050399
Brain. 2010 Sep;133(9):2626-34
pubmed: 20639547
Front Neurol. 2020 Aug 04;11:627
pubmed: 32849169
Neurol Sci. 2011 Jun;32(3):473-7
pubmed: 21234777
Nat Rev Immunol. 2006 Dec;6(12):940-52
pubmed: 17124515
Neurol Neuroimmunol Neuroinflamm. 2019 Apr 08;6(3):e560
pubmed: 31044148
AJNR Am J Neuroradiol. 1999 May;20(5):813-20
pubmed: 10369351
Pediatr Blood Cancer. 2012 May;58(5):810-4
pubmed: 22106034
Pediatr Blood Cancer. 2017 Apr;64(4):
pubmed: 27781387
J Med Genet. 2008 Jan;45(1):15-21
pubmed: 17873118
Radiology. 1994 Sep;192(3):743-54
pubmed: 8058942
Arch Dis Child. 2021 Jun;106(6):527
pubmed: 32907807
Front Immunol. 2017 Aug 09;8:944
pubmed: 28848550
J Neurol Neurosurg Psychiatry. 2019 Sep;90(9):1027-1038
pubmed: 31072955
Br J Haematol. 2008 Feb;140(3):327-35
pubmed: 18076710
Arch Neurol. 2012 Jul;69(7):847-55
pubmed: 22777259
Pediatr Neurol. 2014 Mar;50(3):233-7
pubmed: 24332871
Neurol Neuroimmunol Neuroinflamm. 2021 Mar 3;8(3):
pubmed: 33658321
Eur J Haematol. 2015 Jan;94(1):51-9
pubmed: 24935083
JAMA Netw Open. 2019 Oct 2;2(10):e1914274
pubmed: 31664448
Brain. 2004 Sep;127(Pt 9):1942-7
pubmed: 15289266
Neurology. 2015 Mar 17;84(11):1177-9
pubmed: 25681455
Eur J Paediatr Neurol. 2015 Sep;19(5):603-6
pubmed: 26004995
Blood. 1997 Feb 1;89(3):794-800
pubmed: 9028310
Blood. 2017 Dec 21;130(25):2728-2738
pubmed: 28935695
Dev Med Child Neurol. 2019 Apr;61(4):490-496
pubmed: 30146710